Meindl A - Search Results

1

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Lenski C, et al. Among authors: meindl a. Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205. Am J Hum Genet. 2004. PMID: 15024694 Free PMC article. No abstract available.

2

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9).

Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF. Ramser J, et al. Among authors: meindl a. J Med Genet. 2004 Sep;41(9):679-83. doi: 10.1136/jmg.2004.019000. J Med Genet. 2004. PMID: 15342698 Free PMC article.

3

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Lubs H, et al. Among authors: meindl a. J Med Genet. 2006 Jun;43(6):e30. doi: 10.1136/jmg.2005.037556. J Med Genet. 2006. PMID: 16740914 Free PMC article.

4

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G. Ramser J, et al. Among authors: meindl a. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746149

5

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. Martínez-Garay I, et al. Among authors: meindl a. Eur J Hum Genet. 2007 Jan;15(1):29-34. doi: 10.1038/sj.ejhg.5201717. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033686

6

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. Lenski C, et al. Among authors: meindl a. Am J Hum Genet. 2007 Feb;80(2):372-7. doi: 10.1086/511527. Epub 2006 Dec 28. Am J Hum Genet. 2007. PMID: 17236142 Free PMC article.

7

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Ramser J, et al. Among authors: meindl a. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009. Am J Hum Genet. 2008. PMID: 18179898 Free PMC article.

8

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A. Golla A, et al. Among authors: meindl a. Eur J Hum Genet. 2002 Mar;10(3):217-21. doi: 10.1038/sj.ejhg.5200789. Eur J Hum Genet. 2002. PMID: 11973628

9

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H. Meindl A, et al. Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400964

10

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus.

Wen G, Ramser J, Taudien S, Gausmann U, Blechschmidt K, Frankish A, Ashurst J, Meindl A, Platzer M. Wen G, et al. Among authors: meindl a. Mamm Genome. 2005 Dec;16(12):934-41. doi: 10.1007/s00335-005-0090-3. Epub 2005 Dec 8. Mamm Genome. 2005. PMID: 16341673

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